ERN ITHACA
Contact Members area
  • About Us
    • Who We Are
    • What are ERNs ?
    • Our EU expert centers
    • Our EPAGs network
    • Our EU partnerships
  • Our Workgroups
    • Neurodevelopmental disorders (WG5)
    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)
    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
    • Patient Journeys
  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
    • NSEuronet Meeting
    • ERN-ITHACA Winter School
    • Events
    • News
  • About Us
    • Who We Are
    • What are ERNs ?
    • Our EU expert centers
    • Our EPAGs network
    • Our EU partnerships
  • Our Workgroups
    • Neurodevelopmental disorders (WG5)
    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)
    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
    • Patient Journeys
  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
    • NSEuronet Meeting
    • ERN-ITHACA Winter School
    • Events
    • News
Members area Contact
Home > Our Research Activities > List Of Publications > EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Post navigation

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant
Subscribe to ERN-ITHACA's newsletter

ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

Disclaimer: The content on this website represents the views of the network and is its sole responsibility; it can in no way be taken to reflect the views of the European Commission or any other body of the European Union.

ITHACA logo was created by George Quiney and Angelina Bauder

europe
ern-ithaca
Legal Notice Privacy policy Sitemap